Search Results - "Pareyson, D"

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis by Fridman, V, Bundy, B, Reilly, M M, Pareyson, D, Bacon, C, Burns, J, Day, J, Feely, S, Finkel, R S, Grider, T, Kirk, C A, Herrmann, D N, Laurá, M, Li, J, Lloyd, T, Sumner, C J, Muntoni, F, Piscosquito, G, Ramchandren, S, Shy, R, Siskind, C E, Yum, S W, Moroni, I, Pagliano, E, Zuchner, S, Scherer, S S, Shy, M E

“…BackgroundThe international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with…”
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Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area by Cortese, A., Vita, G., Luigetti, M., Russo, M., Bisogni, G., Sabatelli, M., Manganelli, F., Santoro, L., Cavallaro, T., Fabrizi, G. M., Schenone, A., Grandis, M., Gemelli, C., Mauro, A., Pradotto, L. G., Gentile, L., Stancanelli, C., Lozza, A., Perlini, S., Piscosquito, G., Calabrese, D., Mazzeo, A., Obici, L., Pareyson, D.

“…Tafamidis is a transthyretin (TTR) stabilizer able to prevent TTR tetramer dissociation. There have been a few encouraging studies on Tafamidis efficacy in…”
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Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus by Grandis, M, Obici, L, Luigetti, M, Briani, C, Benedicenti, F, Bisogni, G, Canepa, M, Cappelli, F, Danesino, C, Fabrizi, G M, Fenu, S, Ferrandes, G, Gemelli, C, Manganelli, F, Mazzeo, A, Melchiorri, L, Perfetto, F, Pradotto, L G, Rimessi, P, Tini, G, Tozza, S, Trevisan, L, Pareyson, D, Mandich, P

“…Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a late-onset, autosomal dominant disease caused by progressive extracellular deposition of…”
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Treadmill training in patients affected by Charcot–Marie–Tooth neuropathy: results of a multicenter, prospective, randomized, single‐blind, controlled study by Mori, L., Signori, A., Prada, V., Pareyson, D., Piscosquito, G., Padua, L., Pazzaglia, C., Fabrizi, G. M., Picelli, A., Schenone, A., Grandis, Marina, Maggi, Giovanni, Zuccariono, Riccardo, Marinelli, Lucio, Trompetto, Carlo, Scorsone, Deborah, Montesano, Angelo, Cattaneo, Davide, Casati, Eleonora, Smania, Nicola, Brugnera, Annalisa, Fontana, Carla, Munari, Daniele

“…Background and purpose Muscle‐strengthening, stretching or proprioceptive treatments may slow symptom progression in Charcot—Marie–Tooth (CMT) neuropathy. The…”
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Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment by Cortese, A, Franciotta, D, Alfonsi, E, Visigalli, N, Zardini, E, Diamanti, L, Prunetti, P, Osera, C, Gastaldi, M, Berzero, G, Pichiecchio, A, Piccolo, G, Lozza, A, Piscosquito, G, Salsano, E, Ceroni, M, Moglia, A, Bono, G, Pareyson, D, Marchioni, E

“…Abstract Combined central and peripheral demyelination (CCPD) is rare, and current knowledge is based on case reports and small case series. The aim of our…”
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Altered TDP‐43‐dependent splicing in HSPB8‐related distal hereditary motor neuropathy and myofibrillar myopathy by Cortese, A., Laurà, M., Casali, C., Nishino, I., Hayashi, Y. K., Magri, S., Taroni, F., Stuani, C., Saveri, P., Moggio, M., Ripolone, M., Prelle, A., Pisciotta, C., Sagnelli, A., Pichiecchio, A., Reilly, M. M., Buratti, E., Pareyson, D.

“…Background and purpose Mutations in the small heat‐shock protein 22 gene (HSPB8) have been associated with Charcot‐Marie‐Tooth disease type 2L, distal…”
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Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype by Callegari, Ilaria, Gemelli, C., Geroldi, A., Veneri, F., Mandich, P., D’Antonio, M., Pareyson, D., Shy, M. E., Schenone, A., Prada, V., Grandis, M.

“…Mutations of myelin protein zero gene ( MPZ ) are found in 5% of Charcot–Marie–Tooth patients. In 2004, Shy et al. identified two main phenotypes associated…”
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Nerve conduction velocity in CMT1A: what else can we tell? by Manganelli, F., Pisciotta, C., Reilly, M. M., Tozza, S., Schenone, A., Fabrizi, G. M., Cavallaro, T., Vita, G., Padua, L., Gemignani, F., Laurà, M., Hughes, R. A. C., Solari, A., Pareyson, D., Santoro, L.

“…Background and purpose Charcot‐Marie‐Tooth disease (CMT) type 1A is characterized by uniformly reduced nerve conduction velocity (NCV) that is fully penetrant…”
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Patient-reported disease burden in the Accelerate Clinical Trials in Charcot-Marie-Tooth Disease Study by Rehbein, T, Purks, J, Dilek, N, Behrens-Spraggins, S, Sowden, J E, Eichinger, K J, Burns, J, Pareyson, D, Scherer, S S, Reilly, M M, Shy, M E, McDermott, M P, Heatwole, C R, Herrmann, D N

“…The Charcot-Marie-Tooth Disease Health Index (CMT-HI) is a disease-specific, patient-reported disease burden measure. As part of an international clinical…”
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Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations by POLKE, J. M, LAURA, M, DEVILE, C, SANDFORD, R, SWEENEY, M. G, DAVIS, M. B, REILLY, M. M, PAREYSON, D, TARONI, F, MILANI, M, BERGAMIN, G, GIBBONS, V. S, HOULDEN, H, CHAMLEY, S. C, BLAKE, J

“…Mutations in mitofusin 2 (MFN2) are the most common cause of axonal Charcot-Marie-Tooth disease (CMT2). Over 50 mutations have been reported, mainly causing…”
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Novel outcome measures for Charcot−Marie−Tooth disease: validation and reliability of the 6-min walk test and StepWatch™ Activity Monitor and identification of the walking features related to higher quality of life by Padua, L., Pazzaglia, C., Pareyson, D., Schenone, A., Aiello, A., Fabrizi, G. M., Cavallaro, T., Santoro, L., Manganelli, F., Gemignani, F., Vitetta, F., Quattrone, A., Mazzeo, A., Russo, M., Vita, G.

“…Background and purpose Charcot−Marie−Tooth (CMT) disease is the most common inherited neuropathy, but therapeutic options have been limited to symptom…”
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A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1B by Corrado, L, Magri, S, Bagarotti, A, Carecchio, M, Piscosquito, G, Pareyson, D, Varrasi, C, Vecchio, D, Zonta, A, Cantello, R, Taroni, F, D'Alfonso, S

“…Highlights • We identified a causative synonymous MPZ gene variant in two unrelated Charcot Marie Tooth patients • We analyzed the possible effect of this…”
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Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease by Pareyson, D, Scaioli, V, Laurà, M

“…Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of disorders sharing the same clinical phenotype, characterized by distal limb muscle…”
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Longitudinal quantitative magnetic resonance imaging in adrenomyeloneuropathy by Politi, L. S., Castellano, A., Papinutto, N., Mauro, E., Pareyson, D., Henry, R. G., Falini, A., Salsano, E.

“…Background and purpose Adrenomyeloneuropathy (AMN) is the most frequent metabolic hereditary spastic paraplegia. Accordingly, its main site of pathological…”
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Axonal swellings predict the degeneration of epidermal nerve fibers in painful neuropathies by LAURIA, G, MORBIN, M, LOMBARDI, R, BORGNA, M, MAZZOLENI, G, SGHIRLANZONI, A, PAREYSON, D

“…To correlate the density of swellings in intraepidermal nerve fibers (IENF) with the longitudinal measurement of the epidermal innervation density in patients…”
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Postural stabilization and balance assessment in Charcot–Marie–Tooth 1A subjects by Lencioni, T, Rabuffetti, M, Piscosquito, G, Pareyson, D, Aiello, A, Di Sipio, E, Padua, L, Stra, F, Ferrarin, M

“…Abstract The aim of the present study was to assess postural stabilization skill in adult subjects affected by Charcot–Marie–Tooth disease (CMT) type 1A. For…”
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Responsiveness of clinical outcome measures in Charcot−Marie−Tooth disease by Piscosquito, G., Reilly, M. M., Schenone, A., Fabrizi, G. M., Cavallaro, T., Santoro, L., Manganelli, F., Vita, G., Quattrone, A., Padua, L., Gemignani, F., Visioli, F., Laurà, M., Calabrese, D., Hughes, R. A. C., Radice, D., Solari, A., Pareyson, D.

“…Background and purpose Charcot−Marie−Tooth disease (CMT) is a very slowly progressive neuropathy which makes it difficult to detect disease progression over…”
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Four novel cases of periaxin-related neuropathy and review of the literature by MARCHESI, C, MILANI, M, PAREYSON, D, MORBIN, M, CESANI, M, LAURIA, G, SCAIOLI, V, PICCOLO, G, FABRIZI, G. M, CAVALLARO, T, TARONI, F

“…To report 4 cases of autosomal recessive hereditary neuropathy associated with novel mutations in the periaxin gene (PRX) with a review of the literature…”
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168th ENMC International Workshop: Outcome measures and clinical trials in Charcot–Marie–Tooth disease (CMT) by Reilly, M.M, Shy, M.E, Muntoni, F, Pareyson, D

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Lack of benefit of acetyl-dl-leucine in patients with multiple system atrophy of the cerebellar type by Scigliuolo, G.M., Sagnelli, A., Brenna, G., Pareyson, D., Salsano, E.

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